Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

Nature Genetics

Volumn 9, Issue 2, 1995, Pages 141-145

  Ouahchi, Karim ^a   Arita, Makoto ^b   Kayden, Herbert ^c   Hentati, Fayçal ^d   Hamida, Mongi Ben ^d   Sokol, Ronald ^e   Arai, Hiroyuki ^b   Inoue, Keizo ^b   Mandel, Jean Louis ^a,f   Koenig, Michel ^a,f  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b UNIVERSITY OF TOKYO   (Japan)

^c NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^d Institut National de Neurologie Tunisia   (Tunisia)

^e UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^f UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; CARRIER PROTEIN; LIPOPROTEIN;

ALLELE; ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; ATAXIA; CHROMOSOME 8Q; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AFRICA, NORTHERN; AMINO ACID SEQUENCE; ATAXIA; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; DENMARK; ENGLAND; FEMALE; FRANCE; GERMANY; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SICILY; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; VITAMIN E DEFICIENCY;

EID: 0028876572     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0295-141     Document Type: Article

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